Cargando…

Genotype, phenotype and treatment outcomes of 17 Malaysian patients with infantile-onset Pompe disease and the identification of 3 novel GAA variants

BACKGROUND: Pompe disease is a rare glycogen storage disorder caused by deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA), leading to glycogen deposition in multiple tissues. Infantile-onset Pompe disease (IOPD) patients present within the first year of life with profound hypotonia and...

Descripción completa

Detalles Bibliográficos
Autores principales:	Chan, Mei-Yan, Jalil, Julaina Abdul, Yakob, Yusnita, Wahab, Siti Aishah Abdul, Ali, Ernie Zuraida, Khalid, Mohd Khairul Nizam Mohd, Leong, Huey-Yin, Chew, Hui-Bein, Sivabalakrishnan, Jeya Bawani, Ngu, Lock-Hock
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2023
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10403872/ https://www.ncbi.nlm.nih.gov/pubmed/37542277 http://dx.doi.org/10.1186/s13023-023-02848-6

Ejemplares similares

Identification of mutations in Malaysian patients with argininosuccinate lyase (ASL) deficiency
por: Ali, Ernie Zuraida, et al.
Publicado: (2019)

Clinical and Mutational Analysis of the GCDH Gene in Malaysian Patients with Glutaric Aciduria Type 1
por: Abdul Wahab, Siti Aishah, et al.
Publicado: (2016)

Late-Onset Glycogen Storage Disease Type II (Pompe's Disease) with a Novel Mutation: A Malaysian Experience
por: Fu Liong, Hiew, et al.
Publicado: (2014)

Molecular, Biochemical, and Clinical Characterization of Thirteen Patients with Glycogen Storage Disease 1a in Malaysia
por: Abdul Wahab, Siti Aishah, et al.
Publicado: (2022)

Fourteen new mutations of BCKDHA, BCKDHB and DBT genes associated with maple syrup urine disease (MSUD) in Malaysian population
por: Ali, Ernie Zuraida, et al.
Publicado: (2018)

Mutation Study of Malaysian Patients with Ornithine Transcarbamylase Deficiency: Clinical, Molecular, and Bioinformatics Analyses of Two Novel Missense Mutations of the OTC Gene
por: Ali, Ernie Zuraida, et al.
Publicado: (2018)

Clinical, biochemical and mutational findings in biotinidase deficiency among Malaysian population
por: Mardhiah, M., et al.
Publicado: (2019)

Performance comparison of EasyFix G26 and HYDRASYS 2 SCAN for the detection of serum monoclonal proteins
por: Amin Nordin, Fatimah Diana, et al.
Publicado: (2020)

Clinical, biochemical and genetic profiles of patients with mucopolysaccharidosis type IVA (Morquio A syndrome) in Malaysia: the first national natural history cohort study
por: Leong, Huey Yin, et al.
Publicado: (2019)

Spectrum of germ-line RB1 gene mutations in Malaysian patients with retinoblastoma
por: Mohd Khalid, Mohd Khairul Nizam, et al.
Publicado: (2015)

Selective screening for detection of mucopolysaccharidoses in Malaysia; A two-year study (2014–2016)
por: Omar, Affandi, et al.
Publicado: (2019)

Demographic, laboratory findings and diagnostic evaluation among high risk patients with mucopolysaccharidosis in Malaysia
por: Omar, Affandi, et al.
Publicado: (2019)

GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry
por: Reuser, Arnold J. J., et al.
Publicado: (2019)

Broad variation in phenotypes for common GAA genotypes in Pompe disease
por: Niño, Monica Y., et al.
Publicado: (2021)

Case report of treatment experience with idursulfase beta (Hunterase) in an adolescent patient with MPS II
por: Ngu, Lock-Hock, et al.
Publicado: (2017)

Oncofertility in Islam: The Malaysian Perspective
por: Ahmad, Mohd Faizal, et al.
Publicado: (2021)

Association of metabolic syndrome with risk of cardiovascular disease mortality and all-cause mortality among Malaysian adults: a retrospective cohort study
por: Chee Cheong, Kee, et al.
Publicado: (2021)

Identification a novel mononucleotide deletion mutation in GAA in pompe disease patients
por: Ebrahimi, Milad, et al.
Publicado: (2017)

Scenario modelling of proxy system in the context of Malaysian food flow management
por: Ghani, Latifah Abdul, et al.
Publicado: (2022)

Prevalence and factors associated with secondhand smoke exposure among Malaysian adolescents
por: Ghazali, Sumarni Mohd, et al.
Publicado: (2019)

Hypercholesterolemia in the Malaysian Cohort Participants: Genetic and Non-Genetic Risk Factors
por: Abdul Murad, Nor Azian, et al.
Publicado: (2023)

Radiopathological characteristics and outcomes of phyllodes tumor of the breast in Malaysian women
por: Abdul Hamid, Shamsiah, et al.
Publicado: (2018)

Immune Responses and Hypercoagulation in ERT for Pompe Disease Are Mutation and rhGAA Dose Dependent
por: Nayak, Sushrusha, et al.
Publicado: (2014)

A novel homozygous mutation at the GAA gene in Mexicans with early-onset Pompe disease
por: ESMER, CARMEN, et al.
Publicado: (2013)

First Draft Genome Sequences of Malaysian Clinical Isolates of Corynebacterium diphtheriae
por: Ahmad, Norazah, et al.
Publicado: (2017)

Epidemiology of smoking among Malaysian adult males: prevalence and associated factors
por: Lim, Hock Kuang, et al.
Publicado: (2013)

Birth prevalence and late diagnosis of critical congenital heart disease: A population-based study from a middle-income country
por: Mat Bah, Mohd Nizam, et al.
Publicado: (2020)

A molecular analysis of the GAA gene and clinical spectrum in 38 patients with Pompe disease in Japan
por: Fukuhara, Yasuyuki, et al.
Publicado: (2017)

GAA compound heterozygous mutations associated with autophagic impairment cause cerebral infarction in Pompe disease
por: Jia, Xiaodong, et al.
Publicado: (2020)

Correlation of GAA Genotype and Acid-α-Glucosidase Enzyme Activity in Hungarian Patients with Pompe Disease
por: Gal, Aniko, et al.
Publicado: (2021)

Muscle‐directed gene therapy corrects Pompe disease and uncovers species‐specific GAA immunogenicity
por: Eggers, Michelle, et al.
Publicado: (2021)

Methanolic Extract of Clinacanthus nutans Exerts Antinociceptive Activity via the Opioid/Nitric Oxide-Mediated, but cGMP-Independent, Pathways
por: Abdul Rahim, Mohammad Hafiz, et al.
Publicado: (2016)

Economic Burden of ESRD to the Malaysian Health Care System
por: Ismail, Hirman, et al.
Publicado: (2019)

Factors Associated with Health-Related Quality of Life amongst Employees in a Malaysian Public University
por: Abdul Manaf, Mohd Rizal, et al.
Publicado: (2021)

Reliability and Validity of the Fagerstrom Test for Cigarettes Dependence among Malaysian Adolescents
por: LIM, Kuang Hock, et al.
Publicado: (2016)

GAA Deficiency in Pompe Disease Is Alleviated by Exon Inclusion in iPSC-Derived Skeletal Muscle Cells
por: van der Wal, Erik, et al.
Publicado: (2017)

Novel GAA Variants and Mosaicism in Pompe Disease Identified by Extended Analyses of Patients with an Incomplete DNA Diagnosis
por: in ’t Groen, Stijn L.M., et al.
Publicado: (2020)

Genotypephenotype correlation of 17 cases of Pompe disease in Spanish patients and identification of 4 novel GAA variants
por: Hernndez-Arvalo, Paula, et al.
Publicado: (2021)

Resurgence of Dengue Virus Serotype 4 in Malaysia: A Comprehensive Clinicodemographic and Genomic Analysis
por: Suppiah, Jeyanthi, et al.
Publicado: (2023)

Prevalence of metabolic syndrome and its associated risk factors among staffs in a Malaysian public university
por: Manaf, Mohd Rizal Abdul, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_lfdrk15lmsqat0bs5dfhru737d